Somatic mutations in calreticulin can be found in pedigrees with familial predisposition to myeloproliferative neoplasms

摘要

JAK2-V617F is the most frequently observed somatic mutation in patients with myeloproliferative neoplasms (MPNs). Recently, mutations in CALR were described in patients withessential thrombocythemia (ET) and primary myelofibrosis (PMF) that were negative for JAK2-V617F. All CALR mutations associated with MPNs described to date are either insertions or deletions and result in a frameshift into the alternative reading frame 1. Familial predisposition to MPNs also frequently leads to somatic JAK2-V617F mutations that are found in the majority of the affected family members. Because polycythemia vera (PV), ET, and PMF phenotypes can be observed in these pedigrees, we tested whether mutations in CALR also occur in familial MPNs.